About: CYP2E1*1 Allele     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • CYP2E1*1 Allele
rdfs:subClassOf
OMIM_Number
  • 124040
GenBank_Accession_Number
  • NM_000773
Semantic_Type
  • Gene or Genome
Preferred_Name
  • CYP2E1*1 Allele
PubMedID_Primary_Reference
  • 10491286
  • 9772223
UMLS_CUI
  • C1707232
Legacy_Concept_Name
  • CYP2E1_1_Allele
FULL_SYN
  • Cytochrome P450, Family 2, Subfamily E, Polypeptide 1*1 AlleleSYNCI
  • CYP2E1*1 AllelePTNCI
  • CYP2E1*1SYNCI
Gene_Encodes_Product
  • Cytochrome P450 2E1
DEFINITION
  • Human CYP2E1*1 allele is located within 10q24.3-qter and is approximately 12 kb in length. This allele, a variant form of the CYP2E1 wild-type allele, encodes cytochrome P450 2E1*1 protein. The CYP2E1*1 allele contains 6 to 8 repeats of cis-acting elements (each 42-60 bp long) in the 5'-flanking region of the gene. This repeat polymorphism results in increased enzymatic activity of the cytochrome P450 2E1*1 protein in individuals who carry this allele. However, enhanced in vivo enzymatic activity is only detected after alcohol consumption or in obese individuals.NCI
DesignNote
  • Ethnicity Association: Asian; Caucasian
code
  • C46028
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